ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2864C>G (p.Pro955Arg)

dbSNP: rs758112773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209068 SCV001380487 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 955 of the ELP1 protein (p.Pro955Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs758112773, ExAC no frequency). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001828677 SCV002082060 uncertain significance Familial dysautonomia 2020-05-13 no assertion criteria provided clinical testing

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